Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Growth abnormality (HP:0001507)

Parent Node:
Abnormality of body height (HP:0000002)

Parent Node:
Growth delay (HP:0001510)

..Starting node
..Short stature (HP:0004322)

Term ID:

4322

Name:

Short stature

Synonym:

Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile

Definition:

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

Comments:

Reference:

HP:0004322

Genes and Diseases:

Child Nodes:

........

Pituitary dwarfism (HP:0000839)

........

Disproportionate short stature (HP:0003498)

................... HP:0003521 Disproportionate short-trunk short stature
................... HP:0008873 Disproportionate short-limb short stature

........

Proportionate short stature (HP:0003508)

................... HP:0003502 Mild short stature
................... HP:0003510 Severe short stature
................... HP:0008848 Moderately short stature

........

Birth length less than 3rd percentile (HP:0003561)

........

Asymmetric short stature (HP:0008929)

Sister Nodes:

Absent pubertal growth spurt (HP:0031087)

Delayed puberty (HP:0000823)

Intrauterine growth retardation (HP:0001511)

Postnatal growth retardation (HP:0008897)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0004322	HP:0004322	Short stature	0	A2ML1 CL E G H	144568	648				ORPHA	1	789	23336	610627
HP:0004322	HP:0004322	Short stature	0	A2ML1 CL E G H	144568	648				ORPHA	1	916	23336	610627
HP:0004322	HP:0004322	Short stature	0	AAAS CL E G H	8086	869				ORPHA	1	162	13666	605378
HP:0004322	HP:0004322	Short stature	0	AAAS CL E G H	8086	869				ORPHA	1	174	13666	605378
HP:0004322	HP:0004322	Short stature	0	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1	162	13666	605378
HP:0004322	HP:0004322	Short stature	0	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1	174	13666	605378
HP:0004322	HP:0004322	Short stature	0	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0004322	HP:0004322	Short stature	0	AASS CL E G H	10157	268700	Saccharopinuria	268700	C0268556	OMIM	1	97	17366	605113
HP:0004322	HP:0004322	Short stature	0	AASS CL E G H	10157	268700	Saccharopinuria	268700	C0268556	OMIM	1	108	17366	605113
HP:0004322	HP:0004322	Short stature	0	ABCB11 CL E G H	8647	601847	Progressive familial intrahepatic cholestasis 2	601847	C3489789	OMIM	1	762	42	603201
HP:0004322	HP:0004322	Short stature	0	ABCB11 CL E G H	8647	601847	Progressive familial intrahepatic cholestasis 2	601847	C3489789	OMIM	1	808	42	603201
HP:0004322	HP:0004322	Short stature	0	ABHD5 CL E G H	51099	98907				ORPHA	1	173	21396	604780
HP:0004322	HP:0004322	Short stature	0	ABHD5 CL E G H	51099	98907				ORPHA	1	184	21396	604780
HP:0004322	HP:0004322	Short stature	0	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	359	319	155760
HP:0004322	HP:0004322	Short stature	0	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	456	319	155760
HP:0004322	HP:0004322	Short stature	0	ACD CL E G H	65057	3322				ORPHA	1	229	25070	609377
HP:0004322	HP:0004322	Short stature	0	ACD CL E G H	65057	3322				ORPHA	1	321	25070	609377
HP:0004322	HP:0004322	Short stature	0	ACP5 CL E G H	54	607944	Spondyloenchondrodysplasia with immune dysregulation	607944	C1842763	OMIM	1	149	124	171640
HP:0004322	HP:0004322	Short stature	0	ACP5 CL E G H	54	607944	Spondyloenchondrodysplasia with immune dysregulation	607944	C1842763	OMIM	1	197	124	171640
HP:0004322	HP:0004322	Short stature	0	ACTB CL E G H	60	79107				ORPHA	1	322	132	102630
HP:0004322	HP:0004322	Short stature	0	ACTB CL E G H	60	79107				ORPHA	1	349	132	102630
HP:0004322	HP:0004322	Short stature	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	322	132	102630
HP:0004322	HP:0004322	Short stature	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	349	132	102630
HP:0004322	HP:0004322	Short stature	0	ADAMTS10 CL E G H	81794	3449	Mehes syndrome			ORPHA	1	241	13201	608990
HP:0004322	HP:0004322	Short stature	0	ADAMTS10 CL E G H	81794	3449	Mehes syndrome			ORPHA	1	363	13201	608990
HP:0004322	HP:0004322	Short stature	0	ADAMTS17 CL E G H	170691	613195	Weill-Marchesani-like syndrome	613195	C2750787	OMIM	1	599	17109	607511
HP:0004322	HP:0004322	Short stature	0	ADAMTS17 CL E G H	170691	613195	Weill-Marchesani-like syndrome	613195	C2750787	OMIM	1	751	17109	607511
HP:0004322	HP:0004322	Short stature	0	ADAMTS2 CL E G H	9509	225410	Ehlers-Danlos syndrome, type vii, autosomal recessive	225410	C2700425	OMIM	1	920	218	604539
HP:0004322	HP:0004322	Short stature	0	ADAMTS2 CL E G H	9509	225410	Ehlers-Danlos syndrome, type vii, autosomal recessive	225410	C2700425	OMIM	1	1000	218	604539
HP:0004322	HP:0004322	Short stature	0	ADAMTSL2 CL E G H	9719	231050	Geleophysic dysplasia 1	231050	C3278147	OMIM	1	242	14631	612277
HP:0004322	HP:0004322	Short stature	0	ADAMTSL2 CL E G H	9719	231050	Geleophysic dysplasia 1	231050	C3278147	OMIM	1	244	14631	612277
HP:0004322	HP:0004322	Short stature	0	ADAR CL E G H	103	51				ORPHA	1	471	225	146920
HP:0004322	HP:0004322	Short stature	0	ADAR CL E G H	103	51				ORPHA	1	654	225	146920
HP:0004322	HP:0004322	Short stature	0	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	251	15766	611386
HP:0004322	HP:0004322	Short stature	0	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	268	15766	611386
HP:0004322	HP:0004322	Short stature	0	AFF4 CL E G H	27125	616368	Chops syndrome	616368	C4085597	OMIM	1	112	17869	604417
HP:0004322	HP:0004322	Short stature	0	AFF4 CL E G H	27125	616368	Chops syndrome	616368	C4085597	OMIM	1	157	17869	604417
HP:0004322	HP:0004322	Short stature	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	330	318	613228
HP:0004322	HP:0004322	Short stature	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	355	318	613228
HP:0004322	HP:0004322	Short stature	0	AGL CL E G H	178	366	Arnold Stickler Bourne syndrome			ORPHA	1	1299	321	610860
HP:0004322	HP:0004322	Short stature	0	AGL CL E G H	178	366	Arnold Stickler Bourne syndrome			ORPHA	1	1529	321	610860
HP:0004322	HP:0004322	Short stature	0	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1299	321	610860
HP:0004322	HP:0004322	Short stature	0	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1529	321	610860
HP:0004322	HP:0004322	Short stature	0	AHSG CL E G H	197	2850				ORPHA	1	61	349	138680
HP:0004322	HP:0004322	Short stature	0	ALDH18A1 CL E G H	5832	601162	Spastic paraplegia 9	601162	C1832669	OMIM	1	346	9722	138250
HP:0004322	HP:0004322	Short stature	0	ALDH18A1 CL E G H	5832	601162	Spastic paraplegia 9	601162	C1832669	OMIM	1	392	9722	138250
HP:0004322	HP:0004322	Short stature	0	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	346	9722	138250
HP:0004322	HP:0004322	Short stature	0	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	392	9722	138250
HP:0004322	HP:0004322	Short stature	0	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	437	403	609523
HP:0004322	HP:0004322	Short stature	0	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	475	403	609523
HP:0004322	HP:0004322	Short stature	0	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	1	353	414	103850
HP:0004322	HP:0004322	Short stature	0	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	1	381	414	103850
HP:0004322	HP:0004322	Short stature	0	ALMS1 CL E G H	7840	64				ORPHA	1	2504	428	606844
HP:0004322	HP:0004322	Short stature	0	ALMS1 CL E G H	7840	64				ORPHA	1	3342	428	606844
HP:0004322	HP:0004322	Short stature	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	2504	428	606844
HP:0004322	HP:0004322	Short stature	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	3342	428	606844
HP:0004322	HP:0004322	Short stature	0	ALPL CL E G H	249	241510	Childhood hypophosphatasia	241510	C0220743	OMIM	1	575	438	171760
HP:0004322	HP:0004322	Short stature	0	ALPL CL E G H	249	241510	Childhood hypophosphatasia	241510	C0220743	OMIM	1	671	438	171760
HP:0004322	HP:0004322	Short stature	0	AMER1 CL E G H	139285	300373	Osteopathia striata with cranial sclerosis	300373	C0432268	OMIM	1	245	26837	300647
HP:0004322	HP:0004322	Short stature	0	AMER1 CL E G H	139285	300373	Osteopathia striata with cranial sclerosis	300373	C0432268	OMIM	1	263	26837	300647
HP:0004322	HP:0004322	Short stature	0	AMPD2 CL E G H	271	401805				ORPHA	1	172	469	102771
HP:0004322	HP:0004322	Short stature	0	AMPD2 CL E G H	271	401805				ORPHA	1	230	469	102771
HP:0004322	HP:0004322	Short stature	0	ANK1 CL E G H	286	251066				ORPHA	1	567	492	612641
HP:0004322	HP:0004322	Short stature	0	ANK1 CL E G H	286	251066				ORPHA	1	604	492	612641
HP:0004322	HP:0004322	Short stature	0	ANKLE2 CL E G H	23141	2512				ORPHA	1	184	29101	616062
HP:0004322	HP:0004322	Short stature	0	ANKLE2 CL E G H	23141	2512				ORPHA	1	189	29101	616062
HP:0004322	HP:0004322	Short stature	0	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	184	29101	616062
HP:0004322	HP:0004322	Short stature	0	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	189	29101	616062
HP:0004322	HP:0004322	Short stature	0	ANKRD11 CL E G H	29123	2332				ORPHA	1	1101	21316	611192
HP:0004322	HP:0004322	Short stature	0	ANKRD11 CL E G H	29123	2332				ORPHA	1	1184	21316	611192
HP:0004322	HP:0004322	Short stature	0	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1101	21316	611192
HP:0004322	HP:0004322	Short stature	0	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1184	21316	611192
HP:0004322	HP:0004322	Short stature	0	ANTXR1 CL E G H	84168	2067				ORPHA	1	83	21014	606410
HP:0004322	HP:0004322	Short stature	0	ANTXR1 CL E G H	84168	2067				ORPHA	1	84	21014	606410
HP:0004322	HP:0004322	Short stature	0	AP4B1 CL E G H	10717	280763				ORPHA	1	189	572	607245
HP:0004322	HP:0004322	Short stature	0	AP4B1 CL E G H	10717	280763				ORPHA	1	254	572	607245
HP:0004322	HP:0004322	Short stature	0	AP4E1 CL E G H	23431	280763				ORPHA	1	238	573	607244
HP:0004322	HP:0004322	Short stature	0	AP4E1 CL E G H	23431	280763				ORPHA	1	332	573	607244
HP:0004322	HP:0004322	Short stature	0	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	238	573	607244
HP:0004322	HP:0004322	Short stature	0	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	332	573	607244
HP:0004322	HP:0004322	Short stature	0	AP4M1 CL E G H	9179	280763				ORPHA	1	199	574	602296
HP:0004322	HP:0004322	Short stature	0	AP4M1 CL E G H	9179	280763				ORPHA	1	264	574	602296
HP:0004322	HP:0004322	Short stature	0	AP4S1 CL E G H	11154	280763				ORPHA	1	89	575	607243
HP:0004322	HP:0004322	Short stature	0	AP4S1 CL E G H	11154	280763				ORPHA	1	110	575	607243
HP:0004322	HP:0004322	Short stature	0	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	89	575	607243
HP:0004322	HP:0004322	Short stature	0	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	110	575	607243
HP:0004322	HP:0004322	Short stature	0	AQP2 CL E G H	359	125800	Nephrogenic diabetes insipidus, autosomal	125800	C1563706	OMIM	1	239	634	107777
HP:0004322	HP:0004322	Short stature	0	AQP2 CL E G H	359	125800	Nephrogenic diabetes insipidus, autosomal	125800	C1563706	OMIM	1	247	634	107777
HP:0004322	HP:0004322	Short stature	0	ARID1A CL E G H	8289	1465				ORPHA	1	383	11110	603024
HP:0004322	HP:0004322	Short stature	0	ARID1A CL E G H	8289	1465				ORPHA	1	442	11110	603024
HP:0004322	HP:0004322	Short stature	0	ARID1B CL E G H	57492	1465				ORPHA	1	866	18040	614556
HP:0004322	HP:0004322	Short stature	0	ARID1B CL E G H	57492	1465				ORPHA	1	958	18040	614556
HP:0004322	HP:0004322	Short stature	0	ARID1B CL E G H	57492	251056				ORPHA	1	866	18040	614556
HP:0004322	HP:0004322	Short stature	0	ARID1B CL E G H	57492	251056				ORPHA	1	958	18040	614556
HP:0004322	HP:0004322	Short stature	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	866	18040	614556
HP:0004322	HP:0004322	Short stature	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	958	18040	614556
HP:0004322	HP:0004322	Short stature	0	ARID2 CL E G H	196528	1465				ORPHA	1	179	18037	609539
HP:0004322	HP:0004322	Short stature	0	ARID2 CL E G H	196528	1465				ORPHA	1	186	18037	609539
HP:0004322	HP:0004322	Short stature	0	ARL6 CL E G H	84100	110				ORPHA	1	113	13210	608845
HP:0004322	HP:0004322	Short stature	0	ARL6 CL E G H	84100	110				ORPHA	1	143	13210	608845
HP:0004322	HP:0004322	Short stature	0	ARNT2 CL E G H	9915	3157	Lachiewicz Sibley syndrome			ORPHA	1	62	16876	606036
HP:0004322	HP:0004322	Short stature	0	ARNT2 CL E G H	9915	3157	Lachiewicz Sibley syndrome			ORPHA	1	84	16876	606036
HP:0004322	HP:0004322	Short stature	0	ARSE CL E G H	415	302950	Chondrodysplasia punctata 1, X-linked recessive	302950	C1844853	OMIM	1		719	300180
HP:0004322	HP:0004322	Short stature	0	ARVCF CL E G H	421	567				ORPHA	1	544	728	602269
HP:0004322	HP:0004322	Short stature	0	ARVCF CL E G H	421	567				ORPHA	1	550	728	602269
HP:0004322	HP:0004322	Short stature	0	ARX CL E G H	170302	2508				ORPHA	1	565	18060	300382
HP:0004322	HP:0004322	Short stature	0	ARX CL E G H	170302	2508				ORPHA	1	624	18060	300382
HP:0004322	HP:0004322	Short stature	0	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	565	18060	300382
HP:0004322	HP:0004322	Short stature	0	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	624	18060	300382
HP:0004322	HP:0004322	Short stature	0	ASAH1 CL E G H	427	333				ORPHA	1	420	735	613468
HP:0004322	HP:0004322	Short stature	0	ASAH1 CL E G H	427	333				ORPHA	1	593	735	613468
HP:0004322	HP:0004322	Short stature	0	ASL CL E G H	435	23	Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1		C2931135	ORPHA	1	423	746	608310
HP:0004322	HP:0004322	Short stature	0	ASL CL E G H	435	23	Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1		C2931135	ORPHA	1	469	746	608310
HP:0004322	HP:0004322	Short stature	0	ASPM CL E G H	259266	2512				ORPHA	1	920	19048	605481
HP:0004322	HP:0004322	Short stature	0	ASPM CL E G H	259266	2512				ORPHA	1	1103	19048	605481
HP:0004322	HP:0004322	Short stature	0	ASPM CL E G H	259266	608716	Primary autosomal recessive microcephaly 5	608716	C1837501	OMIM	1	920	19048	605481
HP:0004322	HP:0004322	Short stature	0	ASPM CL E G H	259266	608716	Primary autosomal recessive microcephaly 5	608716	C1837501	OMIM	1	1103	19048	605481
HP:0004322	HP:0004322	Short stature	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	298	18318	612990
HP:0004322	HP:0004322	Short stature	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	388	18318	612990
HP:0004322	HP:0004322	Short stature	0	ATM CL E G H	472	100				ORPHA	1	10320	795	607585
HP:0004322	HP:0004322	Short stature	0	ATM CL E G H	472	100				ORPHA	1	11382	795	607585
HP:0004322	HP:0004322	Short stature	0	ATM CL E G H	472	208900	Ataxia-telangiectasia syndrome	208900	C0004135	OMIM	1	10320	795	607585
HP:0004322	HP:0004322	Short stature	0	ATM CL E G H	472	208900	Ataxia-telangiectasia syndrome	208900	C0004135	OMIM	1	11382	795	607585
HP:0004322	HP:0004322	Short stature	0	ATP6V0A2 CL E G H	23545	2834				ORPHA	1	417	18481	611716
HP:0004322	HP:0004322	Short stature	0	ATP6V0A2 CL E G H	23545	2834				ORPHA	1	458	18481	611716
HP:0004322	HP:0004322	Short stature	0	ATP6V0A2 CL E G H	23545	357074				ORPHA	1	417	18481	611716
HP:0004322	HP:0004322	Short stature	0	ATP6V0A2 CL E G H	23545	357074				ORPHA	1	458	18481	611716
HP:0004322	HP:0004322	Short stature	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	417	18481	611716
HP:0004322	HP:0004322	Short stature	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	458	18481	611716
HP:0004322	HP:0004322	Short stature	0	ATP6V1A CL E G H	523	357074				ORPHA	1	79	851	607027
HP:0004322	HP:0004322	Short stature	0	ATP6V1A CL E G H	523	357074				ORPHA	1	93	851	607027
HP:0004322	HP:0004322	Short stature	0	ATP6V1B2 CL E G H	526	616455	Zimmermann-Laband syndrome 2	616455	C4225321	OMIM	1	115	854	606939
HP:0004322	HP:0004322	Short stature	0	ATP6V1B2 CL E G H	526	616455	Zimmermann-Laband syndrome 2	616455	C4225321	OMIM	1	118	854	606939
HP:0004322	HP:0004322	Short stature	0	ATP6V1E1 CL E G H	529	357074				ORPHA	1	160	857	108746
HP:0004322	HP:0004322	Short stature	0	ATP6V1E1 CL E G H	529	357074				ORPHA	1	168	857	108746
HP:0004322	HP:0004322	Short stature	0	ATP6V1E1 CL E G H	529	617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	617402	C4479387	OMIM	1	160	857	108746
HP:0004322	HP:0004322	Short stature	0	ATP6V1E1 CL E G H	529	617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	617402	C4479387	OMIM	1	168	857	108746
HP:0004322	HP:0004322	Short stature	0	ATP7A CL E G H	538	309400	Menkes kinky-hair syndrome	309400	C0022716	OMIM	1	897	869	300011
HP:0004322	HP:0004322	Short stature	0	ATP7A CL E G H	538	309400	Menkes kinky-hair syndrome	309400	C0022716	OMIM	1	1003	869	300011
HP:0004322	HP:0004322	Short stature	0	ATP8A2 CL E G H	51761	1766				ORPHA	1	126	13533	605870
HP:0004322	HP:0004322	Short stature	0	ATP8A2 CL E G H	51761	1766				ORPHA	1	193	13533	605870
HP:0004322	HP:0004322	Short stature	0	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	209	18802	608918
HP:0004322	HP:0004322	Short stature	0	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	219	18802	608918
HP:0004322	HP:0004322	Short stature	0	ATR CL E G H	545	808	Baker Vinters syndrome			ORPHA	1	755	882	601215
HP:0004322	HP:0004322	Short stature	0	ATR CL E G H	545	808	Baker Vinters syndrome			ORPHA	1	1007	882	601215
HP:0004322	HP:0004322	Short stature	0	ATRIP CL E G H	84126	808	Baker Vinters syndrome			ORPHA	1	239	33499	606605
HP:0004322	HP:0004322	Short stature	0	ATRIP CL E G H	84126	808	Baker Vinters syndrome			ORPHA	1	333	33499	606605
HP:0004322	HP:0004322	Short stature	0	ATRX CL E G H	546	847				ORPHA	1	1103	886	300032
HP:0004322	HP:0004322	Short stature	0	ATRX CL E G H	546	847				ORPHA	1	1217	886	300032
HP:0004322	HP:0004322	Short stature	0	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	1103	886	300032
HP:0004322	HP:0004322	Short stature	0	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	1217	886	300032
HP:0004322	HP:0004322	Short stature	0	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	439	14262	607270
HP:0004322	HP:0004322	Short stature	0	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	454	14262	607270
HP:0004322	HP:0004322	Short stature	0	AVPR2 CL E G H	554	304800	Nephrogenic diabetes insipidus, X-linked	304800	C1563705	OMIM	1	371	897	300538
HP:0004322	HP:0004322	Short stature	0	AVPR2 CL E G H	554	304800	Nephrogenic diabetes insipidus, X-linked	304800	C1563705	OMIM	1	382	897	300538
HP:0004322	HP:0004322	Short stature	0	B3GALT6 CL E G H	126792	75496				ORPHA	1	281	17978	615291
HP:0004322	HP:0004322	Short stature	0	B3GALT6 CL E G H	126792	75496				ORPHA	1	337	17978	615291
HP:0004322	HP:0004322	Short stature	0	B3GALT6 CL E G H	126792	93359				ORPHA	1	281	17978	615291
HP:0004322	HP:0004322	Short stature	0	B3GALT6 CL E G H	126792	93359				ORPHA	1	337	17978	615291
HP:0004322	HP:0004322	Short stature	0	B3GAT3 CL E G H	26229	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	89	923	606374
HP:0004322	HP:0004322	Short stature	0	B3GAT3 CL E G H	26229	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	126	923	606374
HP:0004322	HP:0004322	Short stature	0	B4GALT7 CL E G H	11285	75496				ORPHA	1	175	930	604327
HP:0004322	HP:0004322	Short stature	0	B4GALT7 CL E G H	11285	75496				ORPHA	1	237	930	604327
HP:0004322	HP:0004322	Short stature	0	B4GALT7 CL E G H	11285	130070	Ehlers-Danlos syndrome progeroid type	130070	C1869122	OMIM	1	175	930	604327
HP:0004322	HP:0004322	Short stature	0	B4GALT7 CL E G H	11285	130070	Ehlers-Danlos syndrome progeroid type	130070	C1869122	OMIM	1	237	930	604327
HP:0004322	HP:0004322	Short stature	0	BANF1 CL E G H	8815	614008	Nestor-Guillermo progeria syndrome	614008	C3151446	OMIM	1	44	17397	603811
HP:0004322	HP:0004322	Short stature	0	BANF1 CL E G H	8815	614008	Nestor-Guillermo progeria syndrome	614008	C3151446	OMIM	1	45	17397	603811
HP:0004322	HP:0004322	Short stature	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	191	961	605681
HP:0004322	HP:0004322	Short stature	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	192	961	605681
HP:0004322	HP:0004322	Short stature	0	BBIP1 CL E G H	92482	110				ORPHA	1	59	28093	613605
HP:0004322	HP:0004322	Short stature	0	BBIP1 CL E G H	92482	110				ORPHA	1	71	28093	613605
HP:0004322	HP:0004322	Short stature	0	BBS1 CL E G H	582	110				ORPHA	1	491	966	209901
HP:0004322	HP:0004322	Short stature	0	BBS1 CL E G H	582	110				ORPHA	1	582	966	209901
HP:0004322	HP:0004322	Short stature	0	BBS10 CL E G H	79738	110				ORPHA	1	438	26291	610148
HP:0004322	HP:0004322	Short stature	0	BBS10 CL E G H	79738	110				ORPHA	1	528	26291	610148
HP:0004322	HP:0004322	Short stature	0	BBS12 CL E G H	166379	110				ORPHA	1	355	26648	610683
HP:0004322	HP:0004322	Short stature	0	BBS12 CL E G H	166379	110				ORPHA	1	439	26648	610683
HP:0004322	HP:0004322	Short stature	0	BBS2 CL E G H	583	110				ORPHA	1	482	967	606151
HP:0004322	HP:0004322	Short stature	0	BBS2 CL E G H	583	110				ORPHA	1	585	967	606151
HP:0004322	HP:0004322	Short stature	0	BBS4 CL E G H	585	110				ORPHA	1	299	969	600374
HP:0004322	HP:0004322	Short stature	0	BBS4 CL E G H	585	110				ORPHA	1	378	969	600374
HP:0004322	HP:0004322	Short stature	0	BBS5 CL E G H	129880	110				ORPHA	1	147	970	603650
HP:0004322	HP:0004322	Short stature	0	BBS5 CL E G H	129880	110				ORPHA	1	199	970	603650
HP:0004322	HP:0004322	Short stature	0	BBS7 CL E G H	55212	110				ORPHA	1	254	18758	607590
HP:0004322	HP:0004322	Short stature	0	BBS7 CL E G H	55212	110				ORPHA	1	326	18758	607590
HP:0004322	HP:0004322	Short stature	0	BBS9 CL E G H	27241	110				ORPHA	1	426	30000	607968
HP:0004322	HP:0004322	Short stature	0	BBS9 CL E G H	27241	110				ORPHA	1	512	30000	607968
HP:0004322	HP:0004322	Short stature	0	BCOR CL E G H	54880	568	Aggressive fibromatosis			ORPHA	1	502	20893	300485
HP:0004322	HP:0004322	Short stature	0	BCOR CL E G H	54880	568	Aggressive fibromatosis			ORPHA	1	536	20893	300485
HP:0004322	HP:0004322	Short stature	0	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	502	20893	300485
HP:0004322	HP:0004322	Short stature	0	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	536	20893	300485
HP:0004322	HP:0004322	Short stature	0	BCR CL E G H	613	261330				ORPHA	1	214	1014	151410
HP:0004322	HP:0004322	Short stature	0	BCR CL E G H	613	261330				ORPHA	1	217	1014	151410
HP:0004322	HP:0004322	Short stature	0	BDNF CL E G H	627	893				ORPHA	1	56	1033	113505
HP:0004322	HP:0004322	Short stature	0	BLM CL E G H	641	125				ORPHA	1	2048	1058	604610
HP:0004322	HP:0004322	Short stature	0	BLM CL E G H	641	125				ORPHA	1	2425	1058	604610
HP:0004322	HP:0004322	Short stature	0	BMP2 CL E G H	650	261295				ORPHA	1	92	1069	112261
HP:0004322	HP:0004322	Short stature	0	BMP2 CL E G H	650	261295				ORPHA	1	111	1069	112261
HP:0004322	HP:0004322	Short stature	0	BMPR1B CL E G H	658	2639				ORPHA	1	251	1077	603248
HP:0004322	HP:0004322	Short stature	0	BMPR1B CL E G H	658	2639				ORPHA	1	273	1077	603248
HP:0004322	HP:0004322	Short stature	0	BMPR1B CL E G H	658	93388				ORPHA	1	251	1077	603248
HP:0004322	HP:0004322	Short stature	0	BMPR1B CL E G H	658	93388				ORPHA	1	273	1077	603248
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	500				ORPHA	1	618	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	500				ORPHA	1	680	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	648				ORPHA	1	618	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	648				ORPHA	1	680	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	618	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	680	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	618	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	680	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	613707	LEOPARD syndrome 3	613707	C3150971	OMIM	1	618	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	613707	LEOPARD syndrome 3	613707	C3150971	OMIM	1	680	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	618	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	680	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	613706	Noonan syndrome 7	613706	C3150970	OMIM	1	618	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	613706	Noonan syndrome 7	613706	C3150970	OMIM	1	680	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRCA1 CL E G H	672	84				ORPHA	1	12207	1100	113705
HP:0004322	HP:0004322	Short stature	0	BRCA1 CL E G H	672	84				ORPHA	1	12586	1100	113705
HP:0004322	HP:0004322	Short stature	0	BRCA2 CL E G H	675	84				ORPHA	1	13912	1101	600185
HP:0004322	HP:0004322	Short stature	0	BRCA2 CL E G H	675	84				ORPHA	1	14742	1101	600185
HP:0004322	HP:0004322	Short stature	0	BRCA2 CL E G H	675	605724	Fanconi anemia, complementation group D1	605724	C1838457	OMIM	1	13912	1101	600185
HP:0004322	HP:0004322	Short stature	0	BRCA2 CL E G H	675	605724	Fanconi anemia, complementation group D1	605724	C1838457	OMIM	1	14742	1101	600185
HP:0004322	HP:0004322	Short stature	0	BRF1 CL E G H	2972	616202	Cerebellofaciodental syndrome	616202	C4015495	OMIM	1	142	11551	604902
HP:0004322	HP:0004322	Short stature	0	BRF1 CL E G H	2972	616202	Cerebellofaciodental syndrome	616202	C4015495	OMIM	1	158	11551	604902
HP:0004322	HP:0004322	Short stature	0	BRIP1 CL E G H	83990	84				ORPHA	1	3464	20473	605882
HP:0004322	HP:0004322	Short stature	0	BRIP1 CL E G H	83990	84				ORPHA	1	3778	20473	605882
HP:0004322	HP:0004322	Short stature	0	BTK CL E G H	695	47				ORPHA	1	500	1133	300300
HP:0004322	HP:0004322	Short stature	0	BTK CL E G H	695	47				ORPHA	1	548	1133	300300
HP:0004322	HP:0004322	Short stature	0	BTK CL E G H	695	307200	X-linked agammaglobulinemia with growth hormone deficiency	307200	C0472813	OMIM	1	500	1133	300300
HP:0004322	HP:0004322	Short stature	0	BTK CL E G H	695	307200	X-linked agammaglobulinemia with growth hormone deficiency	307200	C0472813	OMIM	1	548	1133	300300
HP:0004322	HP:0004322	Short stature	0	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	86	1148	602452
HP:0004322	HP:0004322	Short stature	0	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	88	1148	602452
HP:0004322	HP:0004322	Short stature	0	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	511	1149	602860
HP:0004322	HP:0004322	Short stature	0	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	617	1149	602860
HP:0004322	HP:0004322	Short stature	0	BUB1B CL E G H	701	257300	Mosaic variegated aneuploidy syndrome 1	257300	CN031748	OMIM	1	511	1149	602860
HP:0004322	HP:0004322	Short stature	0	BUB1B CL E G H	701	257300	Mosaic variegated aneuploidy syndrome 1	257300	CN031748	OMIM	1	617	1149	602860
HP:0004322	HP:0004322	Short stature	0	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	51	1151	603719
HP:0004322	HP:0004322	Short stature	0	C1R CL E G H	715	75392				ORPHA	1	96	1246	613785
HP:0004322	HP:0004322	Short stature	0	C1R CL E G H	715	75392				ORPHA	1	104	1246	613785
HP:0004322	HP:0004322	Short stature	0	C1S CL E G H	716	75392				ORPHA	1	121	1247	120580
HP:0004322	HP:0004322	Short stature	0	C1S CL E G H	716	75392				ORPHA	1	201	1247	120580
HP:0004322	HP:0004322	Short stature	0	C8orf37 CL E G H	157657	110				ORPHA	1		27232	614477
HP:0004322	HP:0004322	Short stature	0	CA2 CL E G H	760	259730	Osteopetrosis with renal tubular acidosis	259730	C0345407	OMIM	1	104	1373	611492
HP:0004322	HP:0004322	Short stature	0	CA2 CL E G H	760	259730	Osteopetrosis with renal tubular acidosis	259730	C0345407	OMIM	1	119	1373	611492
HP:0004322	HP:0004322	Short stature	0	CA8 CL E G H	767	1766				ORPHA	1	77	1382	114815
HP:0004322	HP:0004322	Short stature	0	CA8 CL E G H	767	1766				ORPHA	1	83	1382	114815
HP:0004322	HP:0004322	Short stature	0	CASK CL E G H	8573	300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	300749	C2677903	OMIM	1	583	1497	300172
HP:0004322	HP:0004322	Short stature	0	CASK CL E G H	8573	300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	300749	C2677903	OMIM	1	633	1497	300172
HP:0004322	HP:0004322	Short stature	0	CASP8 CL E G H	841	607271	Caspase-8 deficiency	607271	C1846545	OMIM	1	194	1509	601763
HP:0004322	HP:0004322	Short stature	0	CASP8 CL E G H	841	607271	Caspase-8 deficiency	607271	C1846545	OMIM	1	230	1509	601763
HP:0004322	HP:0004322	Short stature	0	CASR CL E G H	846	417	Aloi Tomasini Isaia syndrome			ORPHA	1	1318	1514	601199
HP:0004322	HP:0004322	Short stature	0	CASR CL E G H	846	417	Aloi Tomasini Isaia syndrome			ORPHA	1	1569	1514	601199
HP:0004322	HP:0004322	Short stature	0	CAV1 CL E G H	857	612526	Lipodystrophy, congenital generalized, type 3	612526	C2675861	OMIM	1	81	1527	601047
HP:0004322	HP:0004322	Short stature	0	CAV1 CL E G H	857	612526	Lipodystrophy, congenital generalized, type 3	612526	C2675861	OMIM	1	85	1527	601047
HP:0004322	HP:0004322	Short stature	0	CCDC22 CL E G H	28952	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	242	28909	300859
HP:0004322	HP:0004322	Short stature	0	CCDC22 CL E G H	28952	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	250	28909	300859
HP:0004322	HP:0004322	Short stature	0	CCDC8 CL E G H	83987	2616				ORPHA	1	47	25367	614145
HP:0004322	HP:0004322	Short stature	0	CCDC8 CL E G H	83987	2616				ORPHA	1	95	25367	614145
HP:0004322	HP:0004322	Short stature	0	CCDC8 CL E G H	83987	614205	Three M syndrome 3	614205	C3280146	OMIM	1	47	25367	614145
HP:0004322	HP:0004322	Short stature	0	CCDC8 CL E G H	83987	614205	Three M syndrome 3	614205	C3280146	OMIM	1	95	25367	614145
HP:0004322	HP:0004322	Short stature	0	CCN6 CL E G H	8838	1159				ORPHA	1	86	12771	603400
HP:0004322	HP:0004322	Short stature	0	CCN6 CL E G H	8838	1159				ORPHA	1	87	12771	603400
HP:0004322	HP:0004322	Short stature	0	CCNQ CL E G H	92002	140952				ORPHA	1	239	28434	300708
HP:0004322	HP:0004322	Short stature	0	CCNQ CL E G H	92002	140952				ORPHA	1	244	28434	300708
HP:0004322	HP:0004322	Short stature	0	CCNQ CL E G H	92002	300707	STAR syndrome	300707	C2678045	OMIM	1	239	28434	300708
HP:0004322	HP:0004322	Short stature	0	CCNQ CL E G H	92002	300707	STAR syndrome	300707	C2678045	OMIM	1	244	28434	300708
HP:0004322	HP:0004322	Short stature	0	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	56	16892	606037
HP:0004322	HP:0004322	Short stature	0	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	62	16892	606037
HP:0004322	HP:0004322	Short stature	0	CD96 CL E G H	10225	1308	Chorioretinopathy dominant form microcephaly			ORPHA	1	56	16892	606037
HP:0004322	HP:0004322	Short stature	0	CD96 CL E G H	10225	1308	Chorioretinopathy dominant form microcephaly			ORPHA	1	62	16892	606037
HP:0004322	HP:0004322	Short stature	0	CDC45 CL E G H	8318	617063	Meier-gorlin syndrome 7	617063	C4310738	OMIM	1	500	1739	603465
HP:0004322	HP:0004322	Short stature	0	CDC45 CL E G H	8318	617063	Meier-gorlin syndrome 7	617063	C4310738	OMIM	1	542	1739	603465
HP:0004322	HP:0004322	Short stature	0	CDCA7 CL E G H	83879	2268				ORPHA	1	56	14628	609937
HP:0004322	HP:0004322	Short stature	0	CDCA7 CL E G H	83879	2268				ORPHA	1	103	14628	609937
HP:0004322	HP:0004322	Short stature	0	CDH3 CL E G H	1001	1573	Craniofacial dysostosis arthrogryposis progeroid appearence			ORPHA	1	410	1762	114021
HP:0004322	HP:0004322	Short stature	0	CDH3 CL E G H	1001	1573	Craniofacial dysostosis arthrogryposis progeroid appearence			ORPHA	1	523	1762	114021
HP:0004322	HP:0004322	Short stature	0	CDK10 CL E G H	8558	617694	AL KAISSI SYNDROME	617694	C4540156	OMIM	1	90	1770	603464
HP:0004322	HP:0004322	Short stature	0	CDK10 CL E G H	8558	617694	AL KAISSI SYNDROME	617694	C4540156	OMIM	1	94	1770	603464
HP:0004322	HP:0004322	Short stature	0	CDK5RAP2 CL E G H	55755	2512				ORPHA	1	454	18672	608201
HP:0004322	HP:0004322	Short stature	0	CDK5RAP2 CL E G H	55755	2512				ORPHA	1	463	18672	608201
HP:0004322	HP:0004322	Short stature	0	CDK6 CL E G H	1021	2512				ORPHA	1	45	1777	603368
HP:0004322	HP:0004322	Short stature	0	CDKN1C CL E G H	1028	436144				ORPHA	1	673	1786	600856
HP:0004322	HP:0004322	Short stature	0	CDKN1C CL E G H	1028	436144				ORPHA	1	806	1786	600856
HP:0004322	HP:0004322	Short stature	0	CDON CL E G H	50937	95496				ORPHA	1	489	17104	608707
HP:0004322	HP:0004322	Short stature	0	CDON CL E G H	50937	95496				ORPHA	1	518	17104	608707
HP:0004322	HP:0004322	Short stature	0	CDON CL E G H	50937	280200				ORPHA	1	489	17104	608707
HP:0004322	HP:0004322	Short stature	0	CDON CL E G H	50937	280200				ORPHA	1	518	17104	608707
HP:0004322	HP:0004322	Short stature	0	CDSN CL E G H	1041	270300	Peeling skin syndrome	270300	C1849193	OMIM	1	72	1802	602593
HP:0004322	HP:0004322	Short stature	0	CDSN CL E G H	1041	270300	Peeling skin syndrome	270300	C1849193	OMIM	1	76	1802	602593
HP:0004322	HP:0004322	Short stature	0	CENPE CL E G H	1062	808	Baker Vinters syndrome			ORPHA	1	252	1856	117143
HP:0004322	HP:0004322	Short stature	0	CENPE CL E G H	1062	808	Baker Vinters syndrome			ORPHA	1	262	1856	117143
HP:0004322	HP:0004322	Short stature	0	CENPE CL E G H	1062	616051	Primary autosomal recessive microcephaly 13	616051	C4015080	OMIM	1	252	1856	117143
HP:0004322	HP:0004322	Short stature	0	CENPE CL E G H	1062	616051	Primary autosomal recessive microcephaly 13	616051	C4015080	OMIM	1	262	1856	117143
HP:0004322	HP:0004322	Short stature	0	CENPJ CL E G H	55835	2512				ORPHA	1	347	17272	609279
HP:0004322	HP:0004322	Short stature	0	CENPJ CL E G H	55835	2512				ORPHA	1	399	17272	609279
HP:0004322	HP:0004322	Short stature	0	CENPJ CL E G H	55835	808	Baker Vinters syndrome			ORPHA	1	347	17272	609279
HP:0004322	HP:0004322	Short stature	0	CENPJ CL E G H	55835	808	Baker Vinters syndrome			ORPHA	1	399	17272	609279
HP:0004322	HP:0004322	Short stature	0	CENPJ CL E G H	55835	613676	Seckel syndrome 4	613676	C3888212	OMIM	1	347	17272	609279
HP:0004322	HP:0004322	Short stature	0	CENPJ CL E G H	55835	613676	Seckel syndrome 4	613676	C3888212	OMIM	1	399	17272	609279
HP:0004322	HP:0004322	Short stature	0	CEP135 CL E G H	9662	2512				ORPHA	1	176	29086	611423
HP:0004322	HP:0004322	Short stature	0	CEP135 CL E G H	9662	2512				ORPHA	1	245	29086	611423
HP:0004322	HP:0004322	Short stature	0	CEP152 CL E G H	22995	2512				ORPHA	1	334	29298	613529
HP:0004322	HP:0004322	Short stature	0	CEP152 CL E G H	22995	2512				ORPHA	1	404	29298	613529
HP:0004322	HP:0004322	Short stature	0	CEP152 CL E G H	22995	808	Baker Vinters syndrome			ORPHA	1	334	29298	613529
HP:0004322	HP:0004322	Short stature	0	CEP152 CL E G H	22995	808	Baker Vinters syndrome			ORPHA	1	404	29298	613529
HP:0004322	HP:0004322	Short stature	0	CEP152 CL E G H	22995	613823	Seckel syndrome 5	613823	C3151187	OMIM	1	334	29298	613529
HP:0004322	HP:0004322	Short stature	0	CEP152 CL E G H	22995	613823	Seckel syndrome 5	613823	C3151187	OMIM	1	404	29298	613529
HP:0004322	HP:0004322	Short stature	0	CEP164 CL E G H	22897	3156				ORPHA	1	498	29182	614848
HP:0004322	HP:0004322	Short stature	0	CEP164 CL E G H	22897	3156				ORPHA	1	692	29182	614848
HP:0004322	HP:0004322	Short stature	0	CEP290 CL E G H	80184	110				ORPHA	1	1535	29021	610142
HP:0004322	HP:0004322	Short stature	0	CEP290 CL E G H	80184	110				ORPHA	1	1902	29021	610142
HP:0004322	HP:0004322	Short stature	0	CEP290 CL E G H	80184	3156				ORPHA	1	1535	29021	610142
HP:0004322	HP:0004322	Short stature	0	CEP290 CL E G H	80184	3156				ORPHA	1	1902	29021	610142
HP:0004322	HP:0004322	Short stature	0	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	212	30794	607951
HP:0004322	HP:0004322	Short stature	0	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	275	30794	607951
HP:0004322	HP:0004322	Short stature	0	CEP57 CL E G H	9702	614114	Mosaic variegated aneuploidy syndrome 2	614114	C3279843	OMIM	1	212	30794	607951
HP:0004322	HP:0004322	Short stature	0	CEP57 CL E G H	9702	614114	Mosaic variegated aneuploidy syndrome 2	614114	C3279843	OMIM	1	275	30794	607951
HP:0004322	HP:0004322	Short stature	0	CEP63 CL E G H	80254	2512				ORPHA	1	167	25815	614724
HP:0004322	HP:0004322	Short stature	0	CEP63 CL E G H	80254	2512				ORPHA	1	200	25815	614724
HP:0004322	HP:0004322	Short stature	0	CEP63 CL E G H	80254	614728	Seckel syndrome 6	614728	C3553582	OMIM	1	167	25815	614724
HP:0004322	HP:0004322	Short stature	0	CEP63 CL E G H	80254	614728	Seckel syndrome 6	614728	C3553582	OMIM	1	200	25815	614724
HP:0004322	HP:0004322	Short stature	0	CFAP410 CL E G H	755	602271	Spondylometaphyseal dysplasia axial	602271	C1865695	OMIM	1	270	1260	603191
HP:0004322	HP:0004322	Short stature	0	CFAP410 CL E G H	755	602271	Spondylometaphyseal dysplasia axial	602271	C1865695	OMIM	1	335	1260	603191
HP:0004322	HP:0004322	Short stature	0	CHCHD10 CL E G H	400916	457050				ORPHA	1	205	15559	615903
HP:0004322	HP:0004322	Short stature	0	CHCHD10 CL E G H	400916	457050				ORPHA	1	230	15559	615903
HP:0004322	HP:0004322	Short stature	0	CHCHD10 CL E G H	400916	616209	Myopathy, isolated mitochondrial, autosomal dominant	616209	C4015513	OMIM	1	205	15559	615903
HP:0004322	HP:0004322	Short stature	0	CHCHD10 CL E G H	400916	616209	Myopathy, isolated mitochondrial, autosomal dominant	616209	C4015513	OMIM	1	230	15559	615903
HP:0004322	HP:0004322	Short stature	0	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	190	1919	603277
HP:0004322	HP:0004322	Short stature	0	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	217	1919	603277
HP:0004322	HP:0004322	Short stature	0	CHD7 CL E G H	55636	138				ORPHA	1	1752	20626	608892
HP:0004322	HP:0004322	Short stature	0	CHD7 CL E G H	55636	138				ORPHA	1	1980	20626	608892
HP:0004322	HP:0004322	Short stature	0	CHRNG CL E G H	1146	2990				ORPHA	1	206	1967	100730
HP:0004322	HP:0004322	Short stature	0	CHRNG CL E G H	1146	2990				ORPHA	1	212	1967	100730
HP:0004322	HP:0004322	Short stature	0	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	206	1967	100730
HP:0004322	HP:0004322	Short stature	0	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	212	1967	100730
HP:0004322	HP:0004322	Short stature	0	CHST3 CL E G H	9469	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	285	1971	603799
HP:0004322	HP:0004322	Short stature	0	CHST3 CL E G H	9469	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	333	1971	603799
HP:0004322	HP:0004322	Short stature	0	CIT CL E G H	11113	2512				ORPHA	1	319	1985	605629
HP:0004322	HP:0004322	Short stature	0	CIT CL E G H	11113	2512				ORPHA	1	329	1985	605629
HP:0004322	HP:0004322	Short stature	0	CIT CL E G H	11113	617090	Microcephaly 17, primary, autosomal recessive	617090	C4310723	OMIM	1	319	1985	605629
HP:0004322	HP:0004322	Short stature	0	CIT CL E G H	11113	617090	Microcephaly 17, primary, autosomal recessive	617090	C4310723	OMIM	1	329	1985	605629
HP:0004322	HP:0004322	Short stature	0	CLCN5 CL E G H	1184	300009	Dent disease 1	300009	C1848336	OMIM	1	399	2023	300008
HP:0004322	HP:0004322	Short stature	0	CLCN5 CL E G H	1184	300009	Dent disease 1	300009	C1848336	OMIM	1	422	2023	300008
HP:0004322	HP:0004322	Short stature	0	CLCN5 CL E G H	1184	300554	Hypophosphatemic rickets, X-linked recessive	300554	C1845168	OMIM	1	399	2023	300008
HP:0004322	HP:0004322	Short stature	0	CLCN5 CL E G H	1184	300554	Hypophosphatemic rickets, X-linked recessive	300554	C1845168	OMIM	1	422	2023	300008
HP:0004322	HP:0004322	Short stature	0	CLCN5 CL E G H	1184	308990	Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	308990	C1839874	OMIM	1	399	2023	300008
HP:0004322	HP:0004322	Short stature	0	CLCN5 CL E G H	1184	308990	Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	308990	C1839874	OMIM	1	422	2023	300008
HP:0004322	HP:0004322	Short stature	0	CLCN7 CL E G H	1186	53				ORPHA	1	388	2025	602727
HP:0004322	HP:0004322	Short stature	0	CLCN7 CL E G H	1186	53				ORPHA	1	549	2025	602727
HP:0004322	HP:0004322	Short stature	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	176	2586	603432
HP:0004322	HP:0004322	Short stature	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	177	2586	603432
HP:0004322	HP:0004322	Short stature	0	CLMP CL E G H	79827	2301				ORPHA	1	68	24039	611693
HP:0004322	HP:0004322	Short stature	0	CLMP CL E G H	79827	2301				ORPHA	1	69	24039	611693
HP:0004322	HP:0004322	Short stature	0	COG4 CL E G H	25839	85172				ORPHA	1	221	18620	606976
HP:0004322	HP:0004322	Short stature	0	COG4 CL E G H	25839	85172				ORPHA	1	247	18620	606976
HP:0004322	HP:0004322	Short stature	0	COL11A1 CL E G H	1301	560				ORPHA	1	1028	2186	120280
HP:0004322	HP:0004322	Short stature	0	COL11A1 CL E G H	1301	560				ORPHA	1	1339	2186	120280
HP:0004322	HP:0004322	Short stature	0	COL11A1 CL E G H	1301	2021				ORPHA	1	1028	2186	120280
HP:0004322	HP:0004322	Short stature	0	COL11A1 CL E G H	1301	2021				ORPHA	1	1339	2186	120280
HP:0004322	HP:0004322	Short stature	0	COL11A1 CL E G H	1301	250984				ORPHA	1	1028	2186	120280
HP:0004322	HP:0004322	Short stature	0	COL11A1 CL E G H	1301	250984				ORPHA	1	1339	2186	120280
HP:0004322	HP:0004322	Short stature	0	COL11A1 CL E G H	1301	154780	Marshall syndrome	154780	C0265235	OMIM	1	1028	2186	120280
HP:0004322	HP:0004322	Short stature	0	COL11A1 CL E G H	1301	154780	Marshall syndrome	154780	C0265235	OMIM	1	1339	2186	120280
HP:0004322	HP:0004322	Short stature	0	COL11A2 CL E G H	1302	2021				ORPHA	1	705	2187	120290
HP:0004322	HP:0004322	Short stature	0	COL11A2 CL E G H	1302	2021				ORPHA	1	974	2187	120290
HP:0004322	HP:0004322	Short stature	0	COL11A2 CL E G H	1302	215150	Otospondylomegaepiphyseal dysplasia	215150	C0432210	OMIM	1	705	2187	120290
HP:0004322	HP:0004322	Short stature	0	COL11A2 CL E G H	1302	215150	Otospondylomegaepiphyseal dysplasia	215150	C0432210	OMIM	1	974	2187	120290
HP:0004322	HP:0004322	Short stature	0	COL1A1 CL E G H	1277	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1397	2197	120150
HP:0004322	HP:0004322	Short stature	0	COL1A1 CL E G H	1277	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1655	2197	120150
HP:0004322	HP:0004322	Short stature	0	COL1A2 CL E G H	1278	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1042	2198	120160
HP:0004322	HP:0004322	Short stature	0	COL1A2 CL E G H	1278	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1203	2198	120160
HP:0004322	HP:0004322	Short stature	0	COL27A1 CL E G H	85301	615155	Steel syndrome	615155	C3554594	OMIM	1	711	22986	608461
HP:0004322	HP:0004322	Short stature	0	COL27A1 CL E G H	85301	615155	Steel syndrome	615155	C3554594	OMIM	1	813	22986	608461
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	1856				ORPHA	1	1213	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	1856				ORPHA	1	1540	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	85198				ORPHA	1	1213	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	85198				ORPHA	1	1540	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	93316				ORPHA	1	1213	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	93316				ORPHA	1	1540	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	94068				ORPHA	1	1213	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	94068				ORPHA	1	1540	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	150600	Coxa plana	150600	C0023234	OMIM	1	1213	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	150600	Coxa plana	150600	C0023234	OMIM	1	1540	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	132450	C1851536	OMIM	1	1213	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	132450	C1851536	OMIM	1	1540	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	2380	Freiberg's disease			ORPHA	1	1213	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	2380	Freiberg's disease			ORPHA	1	1540	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	604864	Osteoarthritis with mild chondrodysplasia	604864	C1858079	OMIM	1	1213	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	604864	Osteoarthritis with mild chondrodysplasia	604864	C1858079	OMIM	1	1540	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	271700	Spondyloperipheral dysplasia	271700	C0796173	OMIM	1	1213	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	271700	Spondyloperipheral dysplasia	271700	C0796173	OMIM	1	1540	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL3A1 CL E G H	1281	130050	Ehlers-Danlos syndrome, type 4	130050	C0268338	OMIM	1	1935	2201	120180
HP:0004322	HP:0004322	Short stature	0	COL3A1 CL E G H	1281	130050	Ehlers-Danlos syndrome, type 4	130050	C0268338	OMIM	1	2083	2201	120180
HP:0004322	HP:0004322	Short stature	0	COL3A1 CL E G H	1281	2500	Glucocorticoid sensitive hypertension			ORPHA	1	1935	2201	120180
HP:0004322	HP:0004322	Short stature	0	COL3A1 CL E G H	1281	2500	Glucocorticoid sensitive hypertension			ORPHA	1	2083	2201	120180
HP:0004322	HP:0004322	Short stature	0	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	1	1935	2201	120180
HP:0004322	HP:0004322	Short stature	0	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	1	2083	2201	120180
HP:0004322	HP:0004322	Short stature	0	COL5A1 CL E G H	1289	130000	Ehlers-Danlos syndrome, classic type	130000	C0268335	OMIM	1	2077	2209	120215
HP:0004322	HP:0004322	Short stature	0	COL5A1 CL E G H	1289	130000	Ehlers-Danlos syndrome, classic type	130000	C0268335	OMIM	1	2246	2209	120215
HP:0004322	HP:0004322	Short stature	0	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	1	2077	2209	120215
HP:0004322	HP:0004322	Short stature	0	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	1	2246	2209	120215
HP:0004322	HP:0004322	Short stature	0	COL6A2 CL E G H	1292	255600	Myosclerosis, autosomal recessive	255600	C1850671	OMIM	1	1370	2212	120240
HP:0004322	HP:0004322	Short stature	0	COL6A2 CL E G H	1292	255600	Myosclerosis, autosomal recessive	255600	C1850671	OMIM	1	1512	2212	120240
HP:0004322	HP:0004322	Short stature	0	COL9A1 CL E G H	1297	166002				ORPHA	1	594	2217	120210
HP:0004322	HP:0004322	Short stature	0	COL9A1 CL E G H	1297	166002				ORPHA	1	744	2217	120210
HP:0004322	HP:0004322	Short stature	0	COL9A1 CL E G H	1297	250984				ORPHA	1	594	2217	120210
HP:0004322	HP:0004322	Short stature	0	COL9A1 CL E G H	1297	250984				ORPHA	1	744	2217	120210
HP:0004322	HP:0004322	Short stature	0	COL9A1 CL E G H	1297	614134	Stickler syndrome, type 4	614134	C3279941	OMIM	1	594	2217	120210
HP:0004322	HP:0004322	Short stature	0	COL9A1 CL E G H	1297	614134	Stickler syndrome, type 4	614134	C3279941	OMIM	1	744	2217	120210
HP:0004322	HP:0004322	Short stature	0	COL9A2 CL E G H	1298	166002				ORPHA	1	336	2218	120260
HP:0004322	HP:0004322	Short stature	0	COL9A2 CL E G H	1298	166002				ORPHA	1	479	2218	120260
HP:0004322	HP:0004322	Short stature	0	COL9A2 CL E G H	1298	250984				ORPHA	1	336	2218	120260
HP:0004322	HP:0004322	Short stature	0	COL9A2 CL E G H	1298	250984				ORPHA	1	479	2218	120260
HP:0004322	HP:0004322	Short stature	0	COL9A2 CL E G H	1298	614284	Stickler syndrome, type 5	614284	C3280342	OMIM	1	336	2218	120260
HP:0004322	HP:0004322	Short stature	0	COL9A2 CL E G H	1298	614284	Stickler syndrome, type 5	614284	C3280342	OMIM	1	479	2218	120260
HP:0004322	HP:0004322	Short stature	0	COL9A3 CL E G H	1299	166002				ORPHA	1	464	2219	120270
HP:0004322	HP:0004322	Short stature	0	COL9A3 CL E G H	1299	166002				ORPHA	1	703	2219	120270
HP:0004322	HP:0004322	Short stature	0	COL9A3 CL E G H	1299	250984				ORPHA	1	464	2219	120270
HP:0004322	HP:0004322	Short stature	0	COL9A3 CL E G H	1299	250984				ORPHA	1	703	2219	120270
HP:0004322	HP:0004322	Short stature	0	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	54	2220	607620
HP:0004322	HP:0004322	Short stature	0	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	55	2220	607620
HP:0004322	HP:0004322	Short stature	0	COMT CL E G H	1312	567				ORPHA	1	579	2228	116790
HP:0004322	HP:0004322	Short stature	0	COMT CL E G H	1312	567				ORPHA	1	587	2228	116790
HP:0004322	HP:0004322	Short stature	0	COPB2 CL E G H	9276	2512				ORPHA	1	51	2232	606990
HP:0004322	HP:0004322	Short stature	0	COPB2 CL E G H	9276	2512				ORPHA	1	63	2232	606990
HP:0004322	HP:0004322	Short stature	0	COX7B CL E G H	1349	309801	Linear skin defects with multiple congenital anomalies 1	309801	C0796070	OMIM	1	171	2291	300885
HP:0004322	HP:0004322	Short stature	0	COX7B CL E G H	1349	309801	Linear skin defects with multiple congenital anomalies 1	309801	C0796070	OMIM	1	175	2291	300885
HP:0004322	HP:0004322	Short stature	0	COX7B CL E G H	1349	300887	Linear skin defects with multiple congenital anomalies 2	300887	C3550921	OMIM	1	171	2291	300885
HP:0004322	HP:0004322	Short stature	0	COX7B CL E G H	1349	300887	Linear skin defects with multiple congenital anomalies 2	300887	C3550921	OMIM	1	175	2291	300885
HP:0004322	HP:0004322	Short stature	0	CPLANE1 CL E G H	65250	2754				ORPHA	1	824	25801	614571
HP:0004322	HP:0004322	Short stature	0	CPLANE1 CL E G H	65250	2754				ORPHA	1	1239	25801	614571
HP:0004322	HP:0004322	Short stature	0	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	824	25801	614571
HP:0004322	HP:0004322	Short stature	0	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	1239	25801	614571
HP:0004322	HP:0004322	Short stature	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	151	2309	605032
HP:0004322	HP:0004322	Short stature	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	163	2309	605032
HP:0004322	HP:0004322	Short stature	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0004322	HP:0004322	Short stature	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0004322	HP:0004322	Short stature	0	CRKL CL E G H	1399	261330				ORPHA	1	398	2363	602007
HP:0004322	HP:0004322	Short stature	0	CRKL CL E G H	1399	261330				ORPHA	1	406	2363	602007
HP:0004322	HP:0004322	Short stature	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	174	2494	602618
HP:0004322	HP:0004322	Short stature	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	187	2494	602618
HP:0004322	HP:0004322	Short stature	0	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	729	26169	613129
HP:0004322	HP:0004322	Short stature	0	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	918	26169	613129
HP:0004322	HP:0004322	Short stature	0	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	729	26169	613129
HP:0004322	HP:0004322	Short stature	0	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	918	26169	613129
HP:0004322	HP:0004322	Short stature	0	CTCF CL E G H	10664	615502	Mental retardation, autosomal dominant 21	615502	C3809686	OMIM	1	190	13723	604167
HP:0004322	HP:0004322	Short stature	0	CTCF CL E G H	10664	615502	Mental retardation, autosomal dominant 21	615502	C3809686	OMIM	1	201	13723	604167
HP:0004322	HP:0004322	Short stature	0	CTDP1 CL E G H	9150	48431				ORPHA	1	323	2498	604927
HP:0004322	HP:0004322	Short stature	0	CTDP1 CL E G H	9150	48431				ORPHA	1	348	2498	604927
HP:0004322	HP:0004322	Short stature	0	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	323	2498	604927
HP:0004322	HP:0004322	Short stature	0	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	348	2498	604927
HP:0004322	HP:0004322	Short stature	0	CTNND2 CL E G H	1501	281	Ramer Ladda syndrome			ORPHA	1	304	2516	604275
HP:0004322	HP:0004322	Short stature	0	CTNND2 CL E G H	1501	281	Ramer Ladda syndrome			ORPHA	1	308	2516	604275
HP:0004322	HP:0004322	Short stature	0	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	1	550	2518	606272
HP:0004322	HP:0004322	Short stature	0	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	1	591	2518	606272
HP:0004322	HP:0004322	Short stature	0	CTSK CL E G H	1513	763				ORPHA	1	163	2536	601105
HP:0004322	HP:0004322	Short stature	0	CTSK CL E G H	1513	763				ORPHA	1	186	2536	601105
HP:0004322	HP:0004322	Short stature	0	CTSK CL E G H	1513	265800	Pyknodysostosis	265800	C0238402	OMIM	1	163	2536	601105
HP:0004322	HP:0004322	Short stature	0	CTSK CL E G H	1513	265800	Pyknodysostosis	265800	C0238402	OMIM	1	186	2536	601105
HP:0004322	HP:0004322	Short stature	0	CUL4B CL E G H	8450	85293				ORPHA	1	310	2555	300304
HP:0004322	HP:0004322	Short stature	0	CUL4B CL E G H	8450	85293				ORPHA	1	322	2555	300304
HP:0004322	HP:0004322	Short stature	0	CUL4B CL E G H	8450	300354	Syndromic X-linked mental retardation, Cabezas type	300354	C1845861	OMIM	1	310	2555	300304
HP:0004322	HP:0004322	Short stature	0	CUL4B CL E G H	8450	300354	Syndromic X-linked mental retardation, Cabezas type	300354	C1845861	OMIM	1	322	2555	300304
HP:0004322	HP:0004322	Short stature	0	CUL7 CL E G H	9820	2616				ORPHA	1	324	21024	609577
HP:0004322	HP:0004322	Short stature	0	CUL7 CL E G H	9820	2616				ORPHA	1	423	21024	609577
HP:0004322	HP:0004322	Short stature	0	CUL7 CL E G H	9820	273750	Three M syndrome 1	273750	C1848862	OMIM	1	324	21024	609577
HP:0004322	HP:0004322	Short stature	0	CUL7 CL E G H	9820	273750	Three M syndrome 1	273750	C1848862	OMIM	1	423	21024	609577
HP:0004322	HP:0004322	Short stature	0	CWC27 CL E G H	10283	250410	Retinitis pigmentosa with or without skeletal anomalies	250410	C1855188	OMIM	1	135	10664	617170
HP:0004322	HP:0004322	Short stature	0	CWC27 CL E G H	10283	250410	Retinitis pigmentosa with or without skeletal anomalies	250410	C1855188	OMIM	1	196	10664	617170
HP:0004322	HP:0004322	Short stature	0	CYB5A CL E G H	1528	90796				ORPHA	1	145	2570	613218
HP:0004322	HP:0004322	Short stature	0	CYB5A CL E G H	1528	90796				ORPHA	1	148	2570	613218
HP:0004322	HP:0004322	Short stature	0	CYP11B1 CL E G H	1584	90795				ORPHA	1	458	2591	610613
HP:0004322	HP:0004322	Short stature	0	CYP11B1 CL E G H	1584	90795				ORPHA	1	482	2591	610613
HP:0004322	HP:0004322	Short stature	0	CYP11B1 CL E G H	1584	202010	Deficiency of steroid 11-beta-monooxygenase	202010	C0268292	OMIM	1	458	2591	610613
HP:0004322	HP:0004322	Short stature	0	CYP11B1 CL E G H	1584	202010	Deficiency of steroid 11-beta-monooxygenase	202010	C0268292	OMIM	1	482	2591	610613
HP:0004322	HP:0004322	Short stature	0	CYP17A1 CL E G H	1586	90793				ORPHA	1	232	2593	609300
HP:0004322	HP:0004322	Short stature	0	CYP17A1 CL E G H	1586	90793				ORPHA	1	257	2593	609300
HP:0004322	HP:0004322	Short stature	0	CYP17A1 CL E G H	1586	90796				ORPHA	1	232	2593	609300
HP:0004322	HP:0004322	Short stature	0	CYP17A1 CL E G H	1586	90796				ORPHA	1	257	2593	609300
HP:0004322	HP:0004322	Short stature	0	CYP19A1 CL E G H	1588	139300	Familial gynecomastia, due to increased aromatase activity	139300	C1970109	OMIM	1	272	2594	107910
HP:0004322	HP:0004322	Short stature	0	CYP19A1 CL E G H	1588	139300	Familial gynecomastia, due to increased aromatase activity	139300	C1970109	OMIM	1	288	2594	107910
HP:0004322	HP:0004322	Short stature	0	DDHD2 CL E G H	23259	615033	Spastic paraplegia 54, autosomal recessive	615033	C3539495	OMIM	1	192	29106	615003
HP:0004322	HP:0004322	Short stature	0	DDHD2 CL E G H	23259	615033	Spastic paraplegia 54, autosomal recessive	615033	C3539495	OMIM	1	230	29106	615003
HP:0004322	HP:0004322	Short stature	0	DDOST CL E G H	1650	300536				ORPHA	1	154	2728	602202
HP:0004322	HP:0004322	Short stature	0	DDOST CL E G H	1650	300536				ORPHA	1	179	2728	602202
HP:0004322	HP:0004322	Short stature	0	DEAF1 CL E G H	10522	819				ORPHA	1	179	14677	602635
HP:0004322	HP:0004322	Short stature	0	DEAF1 CL E G H	10522	819				ORPHA	1	311	14677	602635
HP:0004322	HP:0004322	Short stature	0	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	511	2860	602858
HP:0004322	HP:0004322	Short stature	0	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	546	2860	602858
HP:0004322	HP:0004322	Short stature	0	DIAPH1 CL E G H	1729	616632	Seizures, cortical blindness, and microcephaly syndrome	616632	C4225261	OMIM	1	554	2876	602121
HP:0004322	HP:0004322	Short stature	0	DIAPH1 CL E G H	1729	616632	Seizures, cortical blindness, and microcephaly syndrome	616632	C4225261	OMIM	1	758	2876	602121
HP:0004322	HP:0004322	Short stature	0	DISP1 CL E G H	84976	280200				ORPHA	1	145	19711	607502
HP:0004322	HP:0004322	Short stature	0	DISP1 CL E G H	84976	280200				ORPHA	1	178	19711	607502
HP:0004322	HP:0004322	Short stature	0	DKC1 CL E G H	1736	3322				ORPHA	1	396	2890	300126
HP:0004322	HP:0004322	Short stature	0	DKC1 CL E G H	1736	3322				ORPHA	1	426	2890	300126
HP:0004322	HP:0004322	Short stature	0	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	396	2890	300126
HP:0004322	HP:0004322	Short stature	0	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	426	2890	300126
HP:0004322	HP:0004322	Short stature	0	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	396	2890	300126
HP:0004322	HP:0004322	Short stature	0	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	426	2890	300126
HP:0004322	HP:0004322	Short stature	0	DLL1 CL E G H	28514	280200				ORPHA	1	177	2908	606582
HP:0004322	HP:0004322	Short stature	0	DLL1 CL E G H	28514	280200				ORPHA	1	206	2908	606582
HP:0004322	HP:0004322	Short stature	0	DLL3 CL E G H	10683	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	185	2909	602768
HP:0004322	HP:0004322	Short stature	0	DLL3 CL E G H	10683	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	228	2909	602768
HP:0004322	HP:0004322	Short stature	0	DMP1 CL E G H	1758	289176				ORPHA	1	125	2932	600980
HP:0004322	HP:0004322	Short stature	0	DMP1 CL E G H	1758	289176				ORPHA	1	139	2932	600980
HP:0004322	HP:0004322	Short stature	0	DMXL2 CL E G H	23312	616113	Polyendocrine-polyneuropathy syndrome	616113	C4015261	OMIM	1	161	2938	612186
HP:0004322	HP:0004322	Short stature	0	DMXL2 CL E G H	23312	616113	Polyendocrine-polyneuropathy syndrome	616113	C4015261	OMIM	1	306	2938	612186
HP:0004322	HP:0004322	Short stature	0	DNA2 CL E G H	1763	615807	Seckel syndrome 8	615807	C3891452	OMIM	1	223	2939	601810
HP:0004322	HP:0004322	Short stature	0	DNA2 CL E G H	1763	615807	Seckel syndrome 8	615807	C3891452	OMIM	1	290	2939	601810
HP:0004322	HP:0004322	Short stature	0	DNAJC21 CL E G H	134218	811	Balo disease			ORPHA	1	91	27030	617048
HP:0004322	HP:0004322	Short stature	0	DNAJC21 CL E G H	134218	811	Balo disease			ORPHA	1	187	27030	617048
HP:0004322	HP:0004322	Short stature	0	DNAJC21 CL E G H	134218	617052	Bone marrow failure syndrome 3	617052	C4310744	OMIM	1	91	27030	617048
HP:0004322	HP:0004322	Short stature	0	DNAJC21 CL E G H	134218	617052	Bone marrow failure syndrome 3	617052	C4310744	OMIM	1	187	27030	617048
HP:0004322	HP:0004322	Short stature	0	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	91	27030	617048
HP:0004322	HP:0004322	Short stature	0	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	187	27030	617048
HP:0004322	HP:0004322	Short stature	0	DNAJC3 CL E G H	5611	445062				ORPHA	1	86	9439	601184
HP:0004322	HP:0004322	Short stature	0	DNAJC3 CL E G H	5611	445062				ORPHA	1	90	9439	601184
HP:0004322	HP:0004322	Short stature	0	DNAJC3 CL E G H	5611	616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	616192	C4015436	OMIM	1	86	9439	601184
HP:0004322	HP:0004322	Short stature	0	DNAJC3 CL E G H	5611	616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	616192	C4015436	OMIM	1	90	9439	601184
HP:0004322	HP:0004322	Short stature	0	DNMT3B CL E G H	1789	2268				ORPHA	1	339	2979	602900
HP:0004322	HP:0004322	Short stature	0	DNMT3B CL E G H	1789	2268				ORPHA	1	402	2979	602900
HP:0004322	HP:0004322	Short stature	0	DNMT3B CL E G H	1789	242860	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	242860	C0398788	OMIM	1	339	2979	602900
HP:0004322	HP:0004322	Short stature	0	DNMT3B CL E G H	1789	242860	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	242860	C0398788	OMIM	1	402	2979	602900
HP:0004322	HP:0004322	Short stature	0	DPF2 CL E G H	5977	1465				ORPHA	1	37	9964	601671
HP:0004322	HP:0004322	Short stature	0	DPF2 CL E G H	5977	1465				ORPHA	1	45	9964	601671
HP:0004322	HP:0004322	Short stature	0	DPH1 CL E G H	1801	616901	Developmental delay with short stature, dysmorphic features, and sparse hair	616901	C4310801	OMIM	1	110	3003	603527
HP:0004322	HP:0004322	Short stature	0	DPH1 CL E G H	1801	616901	Developmental delay with short stature, dysmorphic features, and sparse hair	616901	C4310801	OMIM	1	111	3003	603527
HP:0004322	HP:0004322	Short stature	0	DPP6 CL E G H	1804	2514				ORPHA	1	222	3010	126141
HP:0004322	HP:0004322	Short stature	0	DPP6 CL E G H	1804	2514				ORPHA	1	225	3010	126141
HP:0004322	HP:0004322	Short stature	0	DPP6 CL E G H	1804	616311	Mental retardation, autosomal dominant 33	616311	C4225375	OMIM	1	222	3010	126141
HP:0004322	HP:0004322	Short stature	0	DPP6 CL E G H	1804	616311	Mental retardation, autosomal dominant 33	616311	C4225375	OMIM	1	225	3010	126141
HP:0004322	HP:0004322	Short stature	0	DUOX2 CL E G H	50506	95716				ORPHA	1	434	13273	606759
HP:0004322	HP:0004322	Short stature	0	DUOX2 CL E G H	50506	95716				ORPHA	1	668	13273	606759
HP:0004322	HP:0004322	Short stature	0	DUOXA2 CL E G H	405753	95716				ORPHA	1	69	32698	612772
HP:0004322	HP:0004322	Short stature	0	DUOXA2 CL E G H	405753	95716				ORPHA	1	70	32698	612772
HP:0004322	HP:0004322	Short stature	0	DVL3 CL E G H	1857	616894	Robinow syndrome, autosomal dominant 3	616894	C4225164	OMIM	1	112	3087	601368
HP:0004322	HP:0004322	Short stature	0	DVL3 CL E G H	1857	616894	Robinow syndrome, autosomal dominant 3	616894	C4225164	OMIM	1	141	3087	601368
HP:0004322	HP:0004322	Short stature	0	DYNC2H1 CL E G H	79659	613091	Short-rib thoracic dysplasia 3 with or without polydactyly	613091	C2751311	OMIM	1	1203	2962	603297
HP:0004322	HP:0004322	Short stature	0	DYNC2H1 CL E G H	79659	613091	Short-rib thoracic dysplasia 3 with or without polydactyly	613091	C2751311	OMIM	1	1376	2962	603297
HP:0004322	HP:0004322	Short stature	0	DYNC2LI1 CL E G H	51626	617088	Short-rib thoracic dysplasia 15 with polydactyly	617088	C4310724	OMIM	1	262	24595	617083
HP:0004322	HP:0004322	Short stature	0	DYNC2LI1 CL E G H	51626	617088	Short-rib thoracic dysplasia 15 with polydactyly	617088	C4310724	OMIM	1	300	24595	617083
HP:0004322	HP:0004322	Short stature	0	EBP CL E G H	10682	300960	MEND syndrome	300960	C4085243	OMIM	1	265	3133	300205
HP:0004322	HP:0004322	Short stature	0	EBP CL E G H	10682	300960	MEND syndrome	300960	C4085243	OMIM	1	286	3133	300205
HP:0004322	HP:0004322	Short stature	0	ECEL1 CL E G H	9427	615065	Distal arthrogryposis type 5D	615065	C3554415	OMIM	1	150	3147	605896
HP:0004322	HP:0004322	Short stature	0	ECEL1 CL E G H	9427	615065	Distal arthrogryposis type 5D	615065	C3554415	OMIM	1	153	3147	605896
HP:0004322	HP:0004322	Short stature	0	EFL1 CL E G H	79631	811	Balo disease			ORPHA	1	88	25789	617538
HP:0004322	HP:0004322	Short stature	0	EFL1 CL E G H	79631	811	Balo disease			ORPHA	1	196	25789	617538
HP:0004322	HP:0004322	Short stature	0	EFNB1 CL E G H	1947	304110	Craniofrontonasal dysplasia	304110	C0220767	OMIM	1	201	3226	300035
HP:0004322	HP:0004322	Short stature	0	EFNB1 CL E G H	1947	304110	Craniofrontonasal dysplasia	304110	C0220767	OMIM	1	210	3226	300035
HP:0004322	HP:0004322	Short stature	0	EFTUD2 CL E G H	9343	79113				ORPHA	1	282	30858	603892
HP:0004322	HP:0004322	Short stature	0	EFTUD2 CL E G H	9343	79113				ORPHA	1	310	30858	603892
HP:0004322	HP:0004322	Short stature	0	EFTUD2 CL E G H	9343	610536	Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	610536	C1864652	OMIM	1	282	30858	603892
HP:0004322	HP:0004322	Short stature	0	EFTUD2 CL E G H	9343	610536	Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	610536	C1864652	OMIM	1	310	30858	603892
HP:0004322	HP:0004322	Short stature	0	EHHADH CL E G H	1962	615605	Fanconi renotubular syndrome 3	615605	C3810100	OMIM	1	176	3247	607037
HP:0004322	HP:0004322	Short stature	0	EHHADH CL E G H	1962	615605	Fanconi renotubular syndrome 3	615605	C3810100	OMIM	1	177	3247	607037
HP:0004322	HP:0004322	Short stature	0	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	178	3255	604032
HP:0004322	HP:0004322	Short stature	0	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	296	3255	604032
HP:0004322	HP:0004322	Short stature	0	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	178	3255	604032
HP:0004322	HP:0004322	Short stature	0	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	296	3255	604032
HP:0004322	HP:0004322	Short stature	0	EIF4A3 CL E G H	9775	268305	Richieri Costa Pereira syndrome	268305	C1849348	OMIM	1	36	18683	608546
HP:0004322	HP:0004322	Short stature	0	EIF4A3 CL E G H	9775	268305	Richieri Costa Pereira syndrome	268305	C1849348	OMIM	1	38	18683	608546
HP:0004322	HP:0004322	Short stature	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	657	3327	130160
HP:0004322	HP:0004322	Short stature	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	704	3327	130160
HP:0004322	HP:0004322	Short stature	0	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	1	657	3327	130160
HP:0004322	HP:0004322	Short stature	0	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	1	704	3327	130160
HP:0004322	HP:0004322	Short stature	0	EMG1 CL E G H	10436	1270				ORPHA	1	63	16912	611531
HP:0004322	HP:0004322	Short stature	0	EMG1 CL E G H	10436	1270				ORPHA	1	69	16912	611531
HP:0004322	HP:0004322	Short stature	0	ENPP1 CL E G H	5167	289176				ORPHA	1	370	3356	173335
HP:0004322	HP:0004322	Short stature	0	ENPP1 CL E G H	5167	289176				ORPHA	1	386	3356	173335
HP:0004322	HP:0004322	Short stature	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0004322	HP:0004322	Short stature	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0004322	HP:0004322	Short stature	0	EPG5 CL E G H	57724	1493	Congenital mesoblastic nephroma			ORPHA	1	801	29331	615068
HP:0004322	HP:0004322	Short stature	0	EPG5 CL E G H	57724	1493	Congenital mesoblastic nephroma			ORPHA	1	1033	29331	615068
HP:0004322	HP:0004322	Short stature	0	ERCC1 CL E G H	2067	1466				ORPHA	1	106	3433	126380
HP:0004322	HP:0004322	Short stature	0	ERCC1 CL E G H	2067	1466				ORPHA	1	110	3433	126380
HP:0004322	HP:0004322	Short stature	0	ERCC1 CL E G H	2067	610758	Cerebrooculofacioskeletal syndrome 4	610758	C1853100	OMIM	1	106	3433	126380
HP:0004322	HP:0004322	Short stature	0	ERCC1 CL E G H	2067	610758	Cerebrooculofacioskeletal syndrome 4	610758	C1853100	OMIM	1	110	3433	126380
HP:0004322	HP:0004322	Short stature	0	ERCC2 CL E G H	2068	1466				ORPHA	1	360	3434	126340
HP:0004322	HP:0004322	Short stature	0	ERCC2 CL E G H	2068	1466				ORPHA	1	479	3434	126340
HP:0004322	HP:0004322	Short stature	0	ERCC2 CL E G H	2068	220295				ORPHA	1	360	3434	126340
HP:0004322	HP:0004322	Short stature	0	ERCC2 CL E G H	2068	220295				ORPHA	1	479	3434	126340
HP:0004322	HP:0004322	Short stature	0	ERCC2 CL E G H	2068	601675	Trichothiodystrophy 1, photosensitive	601675	C1866504	OMIM	1	360	3434	126340
HP:0004322	HP:0004322	Short stature	0	ERCC2 CL E G H	2068	601675	Trichothiodystrophy 1, photosensitive	601675	C1866504	OMIM	1	479	3434	126340
HP:0004322	HP:0004322	Short stature	0	ERCC3 CL E G H	2071	220295				ORPHA	1	186	3435	133510
HP:0004322	HP:0004322	Short stature	0	ERCC3 CL E G H	2071	220295				ORPHA	1	283	3435	133510
HP:0004322	HP:0004322	Short stature	0	ERCC3 CL E G H	2071	616390	Trichothiodystrophy 2, photosensitive	616390	C4225344	OMIM	1	186	3435	133510
HP:0004322	HP:0004322	Short stature	0	ERCC3 CL E G H	2071	616390	Trichothiodystrophy 2, photosensitive	616390	C4225344	OMIM	1	283	3435	133510
HP:0004322	HP:0004322	Short stature	0	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	186	3435	133510
HP:0004322	HP:0004322	Short stature	0	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	283	3435	133510
HP:0004322	HP:0004322	Short stature	0	ERCC4 CL E G H	2072	84				ORPHA	1	469	3436	133520
HP:0004322	HP:0004322	Short stature	0	ERCC4 CL E G H	2072	84				ORPHA	1	538	3436	133520
HP:0004322	HP:0004322	Short stature	0	ERCC4 CL E G H	2072	220295				ORPHA	1	469	3436	133520
HP:0004322	HP:0004322	Short stature	0	ERCC4 CL E G H	2072	220295				ORPHA	1	538	3436	133520
HP:0004322	HP:0004322	Short stature	0	ERCC4 CL E G H	2072	615272	Fanconi anemia, complementation group Q	615272	C3808988	OMIM	1	469	3436	133520
HP:0004322	HP:0004322	Short stature	0	ERCC4 CL E G H	2072	615272	Fanconi anemia, complementation group Q	615272	C3808988	OMIM	1	538	3436	133520
HP:0004322	HP:0004322	Short stature	0	ERCC5 CL E G H	2073	1466				ORPHA	1	361	3437	133530
HP:0004322	HP:0004322	Short stature	0	ERCC5 CL E G H	2073	1466				ORPHA	1	374	3437	133530
HP:0004322	HP:0004322	Short stature	0	ERCC5 CL E G H	2073	220295				ORPHA	1	361	3437	133530
HP:0004322	HP:0004322	Short stature	0	ERCC5 CL E G H	2073	220295				ORPHA	1	374	3437	133530
HP:0004322	HP:0004322	Short stature	0	ERCC6 CL E G H	2074	1466				ORPHA	1	825	3438	609413
HP:0004322	HP:0004322	Short stature	0	ERCC6 CL E G H	2074	1466				ORPHA	1	946	3438	609413
HP:0004322	HP:0004322	Short stature	0	ESCO2 CL E G H	157570	269000	Roberts-SC phocomelia syndrome	269000	C0392475	OMIM	1	342	27230	609353
HP:0004322	HP:0004322	Short stature	0	ESCO2 CL E G H	157570	269000	Roberts-SC phocomelia syndrome	269000	C0392475	OMIM	1	376	27230	609353
HP:0004322	HP:0004322	Short stature	0	EXT1 CL E G H	2131	321				ORPHA	1	524	3512	608177
HP:0004322	HP:0004322	Short stature	0	EXT1 CL E G H	2131	321				ORPHA	1	648	3512	608177
HP:0004322	HP:0004322	Short stature	0	EXT1 CL E G H	2131	502	Acromegaloid hypertrichosis syndrome			ORPHA	1	524	3512	608177
HP:0004322	HP:0004322	Short stature	0	EXT1 CL E G H	2131	502	Acromegaloid hypertrichosis syndrome			ORPHA	1	648	3512	608177
HP:0004322	HP:0004322	Short stature	0	EXT1 CL E G H	2131	133700	Multiple congenital exostosis	133700	C0015306	OMIM	1	524	3512	608177
HP:0004322	HP:0004322	Short stature	0	EXT1 CL E G H	2131	133700	Multiple congenital exostosis	133700	C0015306	OMIM	1	648	3512	608177
HP:0004322	HP:0004322	Short stature	0	EXT2 CL E G H	2132	321				ORPHA	1	379	3513	608210
HP:0004322	HP:0004322	Short stature	0	EXT2 CL E G H	2132	321				ORPHA	1	466	3513	608210
HP:0004322	HP:0004322	Short stature	0	EXT2 CL E G H	2132	133701	Multiple exostoses type 2	133701	C1851413	OMIM	1	379	3513	608210
HP:0004322	HP:0004322	Short stature	0	EXT2 CL E G H	2132	133701	Multiple exostoses type 2	133701	C1851413	OMIM	1	466	3513	608210
HP:0004322	HP:0004322	Short stature	0	EYA1 CL E G H	2138	2792	Hyperbilirubinemia type 1			ORPHA	1	367	3519	601653
HP:0004322	HP:0004322	Short stature	0	EYA1 CL E G H	2138	2792	Hyperbilirubinemia type 1			ORPHA	1	404	3519	601653
HP:0004322	HP:0004322	Short stature	0	FAM111A CL E G H	63901	93325				ORPHA	1	64	24725	615292
HP:0004322	HP:0004322	Short stature	0	FAM111A CL E G H	63901	93325				ORPHA	1	79	24725	615292
HP:0004322	HP:0004322	Short stature	0	FAM111A CL E G H	63901	602361	Gracile bone dysplasia	602361	C1865639	OMIM	1	64	24725	615292
HP:0004322	HP:0004322	Short stature	0	FAM111A CL E G H	63901	602361	Gracile bone dysplasia	602361	C1865639	OMIM	1	79	24725	615292
HP:0004322	HP:0004322	Short stature	0	FAM20C CL E G H	56975	259775	Raine syndrome	259775	C1850106	OMIM	1	245	22140	611061
HP:0004322	HP:0004322	Short stature	0	FAM20C CL E G H	56975	259775	Raine syndrome	259775	C1850106	OMIM	1	291	22140	611061
HP:0004322	HP:0004322	Short stature	0	FANCA CL E G H	2175	84				ORPHA	1	2658	3582	607139
HP:0004322	HP:0004322	Short stature	0	FANCA CL E G H	2175	84				ORPHA	1	3146	3582	607139
HP:0004322	HP:0004322	Short stature	0	FANCA CL E G H	2175	227650	Fanconi anemia, complementation group A	227650	C3469521	OMIM	1	2658	3582	607139
HP:0004322	HP:0004322	Short stature	0	FANCA CL E G H	2175	227650	Fanconi anemia, complementation group A	227650	C3469521	OMIM	1	3146	3582	607139
HP:0004322	HP:0004322	Short stature	0	FANCB CL E G H	2187	84				ORPHA	1	410	3583	300515
HP:0004322	HP:0004322	Short stature	0	FANCB CL E G H	2187	84				ORPHA	1	481	3583	300515
HP:0004322	HP:0004322	Short stature	0	FANCC CL E G H	2176	84				ORPHA	1	1079	3584	613899
HP:0004322	HP:0004322	Short stature	0	FANCC CL E G H	2176	84				ORPHA	1	1175	3584	613899
HP:0004322	HP:0004322	Short stature	0	FANCC CL E G H	2176	227645	Fanconi anemia, complementation group C	227645	C3468041	OMIM	1	1079	3584	613899
HP:0004322	HP:0004322	Short stature	0	FANCC CL E G H	2176	227645	Fanconi anemia, complementation group C	227645	C3468041	OMIM	1	1175	3584	613899
HP:0004322	HP:0004322	Short stature	0	FANCD2 CL E G H	2177	84				ORPHA	1	729	3585	613984
HP:0004322	HP:0004322	Short stature	0	FANCD2 CL E G H	2177	84				ORPHA	1	864	3585	613984
HP:0004322	HP:0004322	Short stature	0	FANCD2 CL E G H	2177	227646	Fanconi anemia, complementation group D2	227646	C3160738	OMIM	1	729	3585	613984
HP:0004322	HP:0004322	Short stature	0	FANCD2 CL E G H	2177	227646	Fanconi anemia, complementation group D2	227646	C3160738	OMIM	1	864	3585	613984
HP:0004322	HP:0004322	Short stature	0	FANCE CL E G H	2178	84				ORPHA	1	281	3586	613976
HP:0004322	HP:0004322	Short stature	0	FANCE CL E G H	2178	84				ORPHA	1	360	3586	613976
HP:0004322	HP:0004322	Short stature	0	FANCE CL E G H	2178	600901	Fanconi anemia, complementation group E	600901	C3160739	OMIM	1	281	3586	613976
HP:0004322	HP:0004322	Short stature	0	FANCE CL E G H	2178	600901	Fanconi anemia, complementation group E	600901	C3160739	OMIM	1	360	3586	613976
HP:0004322	HP:0004322	Short stature	0	FANCF CL E G H	2188	84				ORPHA	1	245	3587	613897
HP:0004322	HP:0004322	Short stature	0	FANCF CL E G H	2188	84				ORPHA	1	312	3587	613897
HP:0004322	HP:0004322	Short stature	0	FANCG CL E G H	2189	84				ORPHA	1	473	3588	602956
HP:0004322	HP:0004322	Short stature	0	FANCG CL E G H	2189	84				ORPHA	1	535	3588	602956
HP:0004322	HP:0004322	Short stature	0	FANCI CL E G H	55215	84				ORPHA	1	791	25568	611360
HP:0004322	HP:0004322	Short stature	0	FANCI CL E G H	55215	84				ORPHA	1	1040	25568	611360
HP:0004322	HP:0004322	Short stature	0	FANCL CL E G H	55120	84				ORPHA	1	261	20748	608111
HP:0004322	HP:0004322	Short stature	0	FANCL CL E G H	55120	84				ORPHA	1	348	20748	608111
HP:0004322	HP:0004322	Short stature	0	FANCM CL E G H	57697	84				ORPHA	1	1179	23168	609644
HP:0004322	HP:0004322	Short stature	0	FANCM CL E G H	57697	84				ORPHA	1	1450	23168	609644
HP:0004322	HP:0004322	Short stature	0	FAS CL E G H	355	3437				ORPHA	1	227	11920	134637
HP:0004322	HP:0004322	Short stature	0	FAS CL E G H	355	3437				ORPHA	1	275	11920	134637
HP:0004322	HP:0004322	Short stature	0	FBN1 CL E G H	2200	2084				ORPHA	1	4968	3603	134797
HP:0004322	HP:0004322	Short stature	0	FBN1 CL E G H	2200	2084				ORPHA	1	5457	3603	134797
HP:0004322	HP:0004322	Short stature	0	FBN1 CL E G H	2200	614185	Geleophysic dysplasia 2	614185	C3280054	OMIM	1	4968	3603	134797
HP:0004322	HP:0004322	Short stature	0	FBN1 CL E G H	2200	614185	Geleophysic dysplasia 2	614185	C3280054	OMIM	1	5457	3603	134797
HP:0004322	HP:0004322	Short stature	0	FBN1 CL E G H	2200	3449	Mehes syndrome			ORPHA	1	4968	3603	134797
HP:0004322	HP:0004322	Short stature	0	FBN1 CL E G H	2200	3449	Mehes syndrome			ORPHA	1	5457	3603	134797
HP:0004322	HP:0004322	Short stature	0	FGD1 CL E G H	2245	915				ORPHA	1	312	3663	300546
HP:0004322	HP:0004322	Short stature	0	FGD1 CL E G H	2245	915				ORPHA	1	319	3663	300546
HP:0004322	HP:0004322	Short stature	0	FGF23 CL E G H	8074	193100	Autosomal dominant hypophosphatemic rickets	193100	C0342642	OMIM	1	158	3680	605380
HP:0004322	HP:0004322	Short stature	0	FGF23 CL E G H	8074	193100	Autosomal dominant hypophosphatemic rickets	193100	C0342642	OMIM	1	177	3680	605380
HP:0004322	HP:0004322	Short stature	0	FGF8 CL E G H	2253	280200				ORPHA	1	66	3686	600483
HP:0004322	HP:0004322	Short stature	0	FGF8 CL E G H	2253	280200				ORPHA	1	69	3686	600483
HP:0004322	HP:0004322	Short stature	0	FGFR1 CL E G H	2260	280200				ORPHA	1	530	3688	136350
HP:0004322	HP:0004322	Short stature	0	FGFR1 CL E G H	2260	280200				ORPHA	1	597	3688	136350
HP:0004322	HP:0004322	Short stature	0	FGFR1 CL E G H	2260	147950	Kallmann syndrome 2	147950	C1563720	OMIM	1	530	3688	136350
HP:0004322	HP:0004322	Short stature	0	FGFR1 CL E G H	2260	147950	Kallmann syndrome 2	147950	C1563720	OMIM	1	597	3688	136350
HP:0004322	HP:0004322	Short stature	0	FGFR1 CL E G H	2260	3157	Lachiewicz Sibley syndrome			ORPHA	1	530	3688	136350
HP:0004322	HP:0004322	Short stature	0	FGFR1 CL E G H	2260	3157	Lachiewicz Sibley syndrome			ORPHA	1	597	3688	136350
HP:0004322	HP:0004322	Short stature	0	FGFR2 CL E G H	2263	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	466	3689	176943
HP:0004322	HP:0004322	Short stature	0	FGFR2 CL E G H	2263	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	501	3689	176943
HP:0004322	HP:0004322	Short stature	0	FGFR3 CL E G H	2261	93274				ORPHA	1	541	3690	134934
HP:0004322	HP:0004322	Short stature	0	FGFR3 CL E G H	2261	93274				ORPHA	1	542	3690	134934
HP:0004322	HP:0004322	Short stature	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	214	3693	605830
HP:0004322	HP:0004322	Short stature	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	267	3693	605830
HP:0004322	HP:0004322	Short stature	0	FIG4 CL E G H	9896	3472	Meningococcemia			ORPHA	1	558	16873	609390
HP:0004322	HP:0004322	Short stature	0	FIG4 CL E G H	9896	3472	Meningococcemia			ORPHA	1	649	16873	609390
HP:0004322	HP:0004322	Short stature	0	FKBP10 CL E G H	60681	259450	Bruck syndrome 1	259450	C1850168	OMIM	1	192	18169	607063
HP:0004322	HP:0004322	Short stature	0	FKBP10 CL E G H	60681	259450	Bruck syndrome 1	259450	C1850168	OMIM	1	241	18169	607063
HP:0004322	HP:0004322	Short stature	0	FKBP10 CL E G H	60681	2771	Hydrocephalus costovertebral dysplasia Sprengel anomaly			ORPHA	1	192	18169	607063
HP:0004322	HP:0004322	Short stature	0	FKBP10 CL E G H	60681	2771	Hydrocephalus costovertebral dysplasia Sprengel anomaly			ORPHA	1	241	18169	607063
HP:0004322	HP:0004322	Short stature	0	FKBP10 CL E G H	60681	610968	Osteogenesis imperfecta, type XI	610968	C3151218	OMIM	1	192	18169	607063
HP:0004322	HP:0004322	Short stature	0	FKBP10 CL E G H	60681	610968	Osteogenesis imperfecta, type XI	610968	C3151218	OMIM	1	241	18169	607063
HP:0004322	HP:0004322	Short stature	0	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	1	1274	27310	607273
HP:0004322	HP:0004322	Short stature	0	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	1	1439	27310	607273
HP:0004322	HP:0004322	Short stature	0	FLI1 CL E G H	2313	2308	Fetal minoxidil syndrome			ORPHA	1	172	3749	193067
HP:0004322	HP:0004322	Short stature	0	FLI1 CL E G H	2313	2308	Fetal minoxidil syndrome			ORPHA	1	174	3749	193067
HP:0004322	HP:0004322	Short stature	0	FLII CL E G H	2314	819				ORPHA	1	155	3750	600362
HP:0004322	HP:0004322	Short stature	0	FLII CL E G H	2314	819				ORPHA	1	158	3750	600362
HP:0004322	HP:0004322	Short stature	0	FLNA CL E G H	2316	2301				ORPHA	1	1893	3754	300017
HP:0004322	HP:0004322	Short stature	0	FLNA CL E G H	2316	2301				ORPHA	1	2130	3754	300017
HP:0004322	HP:0004322	Short stature	0	FLNA CL E G H	2316	2484	Glaucoma type 1C			ORPHA	1	1893	3754	300017
HP:0004322	HP:0004322	Short stature	0	FLNA CL E G H	2316	2484	Glaucoma type 1C			ORPHA	1	2130	3754	300017
HP:0004322	HP:0004322	Short stature	0	FLNA CL E G H	2316	311300	Oto-palato-digital syndrome, type I	311300	C0265251	OMIM	1	1893	3754	300017
HP:0004322	HP:0004322	Short stature	0	FLNA CL E G H	2316	311300	Oto-palato-digital syndrome, type I	311300	C0265251	OMIM	1	2130	3754	300017
HP:0004322	HP:0004322	Short stature	0	FLNA CL E G H	2316	304120	Oto-palato-digital syndrome, type II	304120	C1844696	OMIM	1	1893	3754	300017
HP:0004322	HP:0004322	Short stature	0	FLNA CL E G H	2316	304120	Oto-palato-digital syndrome, type II	304120	C1844696	OMIM	1	2130	3754	300017
HP:0004322	HP:0004322	Short stature	0	FLNB CL E G H	2317	150250	Larsen syndrome, dominant type	150250	C1835564	OMIM	1	786	3755	603381
HP:0004322	HP:0004322	Short stature	0	FLNB CL E G H	2317	150250	Larsen syndrome, dominant type	150250	C1835564	OMIM	1	988	3755	603381
HP:0004322	HP:0004322	Short stature	0	FMR1 CL E G H	2332	261483				ORPHA	1	317	3775	309550
HP:0004322	HP:0004322	Short stature	0	FMR1 CL E G H	2332	261483				ORPHA	1	322	3775	309550
HP:0004322	HP:0004322	Short stature	0	FN1 CL E G H	2335	184255	Spondylometaphyseal dysplasia - Sutcliffe type	184255	C0432221	OMIM	1	473	3778	135600
HP:0004322	HP:0004322	Short stature	0	FN1 CL E G H	2335	184255	Spondylometaphyseal dysplasia - Sutcliffe type	184255	C0432221	OMIM	1	609	3778	135600
HP:0004322	HP:0004322	Short stature	0	FOXE1 CL E G H	2304	95713				ORPHA	1	69	3806	602617
HP:0004322	HP:0004322	Short stature	0	FOXE1 CL E G H	2304	95713				ORPHA	1	70	3806	602617
HP:0004322	HP:0004322	Short stature	0	FOXH1 CL E G H	8928	280200				ORPHA	1	206	3814	603621
HP:0004322	HP:0004322	Short stature	0	FOXH1 CL E G H	8928	280200				ORPHA	1	220	3814	603621
HP:0004322	HP:0004322	Short stature	0	FUCA1 CL E G H	2517	230000	Fucosidosis	230000	C0016788	OMIM	1	137	4006	612280
HP:0004322	HP:0004322	Short stature	0	FUCA1 CL E G H	2517	230000	Fucosidosis	230000	C0016788	OMIM	1	188	4006	612280
HP:0004322	HP:0004322	Short stature	0	G6PC CL E G H	2538	232200	Glycogen storage disease type 1A	232200	C2919796	OMIM	1		4056	613742
HP:0004322	HP:0004322	Short stature	0	GAS1 CL E G H	2619	280200				ORPHA	1	52	4165	139185
HP:0004322	HP:0004322	Short stature	0	GAS1 CL E G H	2619	280200				ORPHA	1	58	4165	139185
HP:0004322	HP:0004322	Short stature	0	GATA1 CL E G H	2623	190685	Complete trisomy 21 syndrome	190685	C0013080	OMIM	1	283	4170	305371
HP:0004322	HP:0004322	Short stature	0	GATA1 CL E G H	2623	190685	Complete trisomy 21 syndrome	190685	C0013080	OMIM	1	304	4170	305371
HP:0004322	HP:0004322